ENSG00000168878


Homo sapiens

Features
Gene ID: ENSG00000168878
  
Biological name :SFTPB
  
Synonyms : P07988 / SFTPB / surfactant protein B
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p11.2
Gene start: 85657314
Gene end: 85668741
  
Corresponding Affymetrix probe sets: 209810_at (Human Genome U133 Plus 2.0 Array)   213936_x_at (Human Genome U133 Plus 2.0 Array)   214354_x_at (Human Genome U133 Plus 2.0 Array)   37004_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377409
Ensembl peptide - ENSP00000415347
Ensembl peptide - ENSP00000428719
Ensembl peptide - ENSP00000476194
Ensembl peptide - ENSP00000386346
NCBI entrez gene - 6439     See in Manteia.
OMIM - 178640
RefSeq - XM_017004703
RefSeq - NM_000542
RefSeq - NM_198843
RefSeq - XM_005264487
RefSeq - XM_005264488
RefSeq - XM_005264490
RefSeq - XM_017004702
RefSeq Peptide - NP_000533
RefSeq Peptide - NP_942140
swissprot - H0Y7V6
swissprot - U3KQT2
swissprot - D6W5L6
swissprot - P07988
Ensembl - ENSG00000168878
  
Related genetic diseases (OMIM): 265120 - Surfactant metabolism dysfunction, pulmonary, 1, 265120
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sftpbaENSDARG00000094708Danio rerio
 sftpbbENSDARG00000067566Danio rerio
 SftpbENSMUSG00000056370Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PSAP / P07602 / prosaposinENSG0000019774623
PSAPL1 / Q6NUJ1 / prosaposin like 1 (gene/pseudogene)ENSG0000017859722


Protein motifs (from Interpro)
Interpro ID Name
 IPR003119  Saposin A-type domain
 IPR007856  Saposin-like type B, region 1
 IPR008138  Saposin B type, region 2
 IPR008139  Saposin B type domain
 IPR008373  Saposin
 IPR011001  Saposin-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0007585 respiratory gaseous exchange IEA
 biological_processGO:0009887 animal organ morphogenesis TAS
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:0044267 cellular protein metabolic process TAS
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IBA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005771 multivesicular body IBA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0042599 lamellar body TAS
 cellular_componentGO:0045334 clathrin-coated endocytic vesicle TAS
 cellular_componentGO:0097208 alveolar lamellar body IBA
 cellular_componentGO:0097486 multivesicular body lumen TAS
 molecular_functionGO:0001664 G-protein coupled receptor binding IBA
 molecular_functionGO:0008047 enzyme activator activity IBA


Pathways (from Reactome)
Pathway description
Surfactant metabolism
Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS)
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000961 Cyanosis 
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 HP:0001217 Clubbing "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001508 Failure to thrive 
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 HP:0001939 Metabolism abnormality 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002094 Dyspnea 
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 HP:0002098 Respiratory distress 
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 HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
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 HP:0002789 Tachypnea 
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 HP:0002878 Early respiratory failure 
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 HP:0003593 Early onset 
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 HP:0003678 Rapidly progressive 
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 HP:0005942 Desquamative interstitial pneumonitis 
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 HP:0006517 Congenital alveolar proteinosis 
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 HP:0006530 Interstitial pulmonary disease 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125482 TTF1 / Q15361 / transcription termination factor 1  / complex
 ENSG00000168878 SFTPB / P07988 / surfactant protein B  / complex / reaction
 ENSG00000168484 SFTPC / P11686 / surfactant protein C  / reaction
 ENSG00000133773 CCDC59 / Q9P031 / coiled-coil domain containing 59  / complex






 

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